HES5

Chr 1

hes family bHLH transcription factor 5

Also known as: bHLHb38

NCBI Gene: 388585 ENSG00000197921 UniProt: Q5TA89 OMIM: 607348

The protein is a basic helix-loop-helix transcriptional repressor that functions downstream of the Notch pathway to regulate cell differentiation and acts as a negative regulator of neurogenesis. Mutations in HES5 cause autosomal dominant epilepsy with auditory features. This condition follows an autosomal dominant inheritance pattern and primarily affects the nervous system with seizures and hearing-related symptoms.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

Mechanism· predicted